| 概要 |
Congenital asplenia is a rare developmental disorder that is characterized by the absence of a spleen at birth. The patients are prone to life-threatening bacterial infections. Isolated congenital asplenia has no other developmental defects. Mutations in the gene RPSA, which encodes ribosomal protein, cause more than half of the cases of isolated congenital asplenia. The mode of inheritance is usually autosomal dominant, though sporadic cases are also reported. Congenital asplenia often occurs in the context of a recognised malformation syndrome, called the Ivemark syndrome.
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| 著者 |
Bolze A, Mahlaoui N, Byun M, Turner B, Trede N, Ellis SR, Abhyankar A, Itan Y, Patin E, Brebner S, Sackstein P, Puel A, Picard C, Abel L, Quintana-Murci L, Faust SN, Williams AP, Baretto R, Duddridge M, Kini U, Pollard AJ, Gaud C, Frange P, Orbach D, Emile JF, Stephan JL, Sorensen R, Plebani A, Hammarstrom L, Conley ME, Selleri L, Casanova JL |
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| 著者 |
Kaasinen E, Aittomaki K, Eronen M, Vahteristo P, Karhu A, Mecklin JP, Kajantie E, Aaltonen LA, Lehtonen R |
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